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A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra

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Abstract

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.

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Acknowledgements

This case report would not have been possible without the willing cooperation of Dr. Marc Delpech and colleagues. We gratefully acknowledge their support in genetic analyses of our patient and his family.

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Authors and Affiliations

  1. Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey

    Buket Dalgic, Odul Egritas & Sinan Sari

  2. Laboratoire de Biochimie Genetique, Institut Cochin -INSERM U567 and Hopital Cochin, Assistance Publique Hopitaux de Paris, Paris, France

    Laurence Cuisset

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  1. Buket Dalgic
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  2. Odul Egritas
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  3. Sinan Sari
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  4. Laurence Cuisset
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Correspondence to Odul Egritas.

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Dalgic, B., Egritas, O., Sari, S. et al. A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. Pediatr Nephrol 22, 1391–1394 (2007). https://doi.org/10.1007/s00467-007-0500-8

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  • DOI: https://doi.org/10.1007/s00467-007-0500-8

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